ClinVar for Gene (Select 51333) - ClinVar

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Links from Gene

Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3259479	NM_001142305.2(ZNF771):c.848G>A (p.Arg283Gln)	ZNF771 (R283Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3243573	NC_000016.9:g.(?_28889993)_(31202759_?)del	ALDOA, ASPHD1 +76 more	Deletion	Dilated Cardiomyopathy, Dominant	GUncertain significance
Select item 3198224	NM_001142305.2(ZNF771):c.779C>T (p.Pro260Leu)	ZNF771 (P260L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198223	NM_001142305.2(ZNF771):c.706T>C (p.Cys236Arg)	ZNF771 (C236R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198222	NM_001142305.2(ZNF771):c.600G>C (p.Glu200Asp)	ZNF771 (E200D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198221	NM_001142305.2(ZNF771):c.568C>G (p.Leu190Val)	LOC130058832, ZNF771 (L190V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198220	NM_001142305.2(ZNF771):c.464G>A (p.Arg155His)	ZNF771 (R155H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198219	NM_001142305.2(ZNF771):c.344G>A (p.Gly115Asp)	ZNF771 (G115D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198218	NM_001142305.2(ZNF771):c.155C>G (p.Ala52Gly)	LOC130058831, ZNF771 (A52G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515601	NM_001142305.2(ZNF771):c.784G>A (p.Ala262Thr)	ZNF771 (A262T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492827	NM_001142305.2(ZNF771):c.182G>T (p.Arg61Leu)	LOC130058831, ZNF771 (R61L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272175	NM_001142305.2(ZNF771):c.149G>A (p.Gly50Asp)	LOC130058831, ZNF771 (G50D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1807793	GRCh37/hg19 16p13.3-11.2(chr16:4380767-30445350)x3	ABAT, ABCC1 +226 more	Copy number gain	not provided	GPathogenic
Select item 1330201	GRCh37/hg19 16p11.2(chr16:29808153-30750270)x3	ALDOA, ASPHD1 +42 more	Copy number gain	Chromosome 16p11.2 duplication syndrome	GPathogenic
Select item 1330157	GRCh37/hg19 16p11.2(chr16:29974415-30596982)x1	ALDOA, BOLA2B +29 more	Copy number loss	Distal 16p11.2 microdeletion syndrome	GLikely pathogenic
Select item 979443	GRCh37/hg19 16p11.2(chr16:30350747-31905898)x3	STX4, DCTPP1 +52 more	Copy number gain	not provided	GUncertain significance
Select item 813717	GRCh37/hg19 16p13.3-11.2(chr16:5805001-34230001)	ABAT, ABCC1 +250 more	Copy number gain	Microcephaly	GPathogenic
Select item 443126	GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3	CBLN1, CCDC102A +591 more	Copy number gain	See cases	GUncertain significance
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	CCL22, CCNF +811 more	Copy number gain	See cases	GPathogenic
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	ABCC6, BCL7C +811 more	Copy number gain	See cases	GPathogenic
Select item 395300	GRCh37/hg19 16p11.2(chr16:28826162-29043901)x1	AHSP, ALDOA +99 more	Copy number loss	See cases	GLikely pathogenic
Select item 375693	maternal UPD(16p)	ALG1, BICDL2 +388 more	Complex	Hemimegalencephaly	GPathogenic
Select item 221517	GRCh37/hg19 16p11.2(chr16:30391304-31122666)x3	BCKDK, BCL7C +30 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 221391	GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3	ABAT, ABCA3 +384 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 155318	GRCh38/hg38 16p11.2(chr16:29892937-30433124)x3	ALDOA, ASPHD1 +77 more	Copy number gain	See cases	GPathogenic
Select item 152605	GRCh38/hg38 16p12.2-11.2(chr16:23752047-31943755)x3	LOC130058732, LOC130058733 +504 more	Copy number gain	See cases	GPathogenic
Select item 151637	GRCh38/hg38 16p12.1-11.2(chr16:27311746-31193406)x3	ZNF747, ZNF747-DT +378 more	Copy number gain	See cases	GPathogenic
Select item 146284	GRCh38/hg38 16p11.2(chr16:29581462-30691912)x1	ALDOA, ASPHD1 +180 more	Copy number loss	See cases	GPathogenic
Select item 146013	GRCh38/hg38 16p11.2(chr16:29909613-31438697)x3	LOC130058889, LOC130058890 +207 more	Copy number gain	See cases	GPathogenic
Select item 59991	GRCh38/hg38 16p11.2(chr16:30359229-30570499)x3	CD2BP2-DT, DCTPP1 +46 more	Copy number gain	See cases	GUncertain significance
Select item 58626	GRCh38/hg38 16p12.2-11.2(chr16:23047969-30632245)x3	DCTPP1, DOC2A +409 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 32